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Christian Beetz

Showing results (61-70 of 160) with videos related to

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Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Infection and Immunity|January 12, 2011
Interleukin-4-inducing principle from Schistosoma mansoni eggs contains a functional C-terminal nuclear localization signal necessary for nuclear translocation in mammalian cells but not for its uptakeIshwinder Kaur, Gabriele Schramm, Bart Everts, et al.
The Journal of Cell Biology|April 9, 2017
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaRachel Allison, James R Edgar, Guy Pearson, et al.
Journal of the American Society of Nephrology : JASN|October 6, 2020
Biallelic Pathogenic <i>GFRA1</i> Variants Cause Autosomal Recessive Bilateral Renal AgenesisVeronica Arora, Suliman Khan, Ayman W El-Hattab, et al.
Autophagy|February 23, 2021
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformationMukhran Khundadze, Federico Ribaudo, Adeela Hussain, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 13, 2023
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological ConditionsAna Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, et al.
Annals of Neurology|March 1, 2025
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease PathogenesisEmma N Somerville, Alva James, Christian Beetz, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Plasma glucosylceramide levels are regulated by <i>ATP10D</i> and are not involved in Parkinson's disease pathogenesisEmma N Somerville, Alva James, Christian Beetz, et al.
Pageof 16

Showing results (61-70 of 160) with videos related to

Sort By:
Pageof 16
Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Infection and Immunity|January 12, 2011
Interleukin-4-inducing principle from Schistosoma mansoni eggs contains a functional C-terminal nuclear localization signal necessary for nuclear translocation in mammalian cells but not for its uptakeIshwinder Kaur, Gabriele Schramm, Bart Everts, et al.
The Journal of Cell Biology|April 9, 2017
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaRachel Allison, James R Edgar, Guy Pearson, et al.
Journal of the American Society of Nephrology : JASN|October 6, 2020
Biallelic Pathogenic <i>GFRA1</i> Variants Cause Autosomal Recessive Bilateral Renal AgenesisVeronica Arora, Suliman Khan, Ayman W El-Hattab, et al.
Autophagy|February 23, 2021
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformationMukhran Khundadze, Federico Ribaudo, Adeela Hussain, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 13, 2023
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological ConditionsAna Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, et al.
Annals of Neurology|March 1, 2025
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease PathogenesisEmma N Somerville, Alva James, Christian Beetz, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Plasma glucosylceramide levels are regulated by <i>ATP10D</i> and are not involved in Parkinson's disease pathogenesisEmma N Somerville, Alva James, Christian Beetz, et al.
Pageof 16